Canonical Allele Identifier: CA015299
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43035
ClinVar RCV Id: RCV000035929 RCV000712361 RCV000758053 RCV001085959
dbSNP Id: rs146858930
ExAC: 14:23885378 C / T
gnomAD v2: 14-23885378-C-T
gnomAD v3: 14-23416169-C-T
gnomAD v4: 14-23416169-C-T
MyVariant Identifiers: chr14:g.23885378C>T (hg19) chr14:g.23416169C>T (hg38)
ERepo: CA015299/MONDO:0004994/002
PubMed: PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416169C>T , CM000676.2:g.23416169C>T GRCh38
NC_000014.8:g.23885378C>T , CM000676.1:g.23885378C>T GRCh37
NC_000014.7:g.22955218C>T NCBI36
NG_007884.1:g.24493G>A , LRG_384:g.24493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4788G>A (MYH7) MANE Select ENSP00000347507.3:p.Ser1596=
ENST00000355349.3:c.4788G>A (MYH7) ENSP00000347507.3:p.Ser1596=
NM_000257.3:c.4788G>A (MYH7) NP_000248.2:p.Ser1596=
NR_126491.1:n.430C>T (MHRT)
XM_017021340.1:c.4788G>A (MYH7) XP_016876829.1:p.Ser1596=
NM_000257.4:c.4788G>A (MYH7) MANE Select NP_000248.2:p.Ser1596=
Search 100 bp 5'
Search 100 bp 3'